A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report

(2021) Keinosuke Hizuka et al.   BMC GASTROENTEROLOGY

Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring

(2020) Erell Guillerm et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

(2019) Willemina R. Geurts‐Giele et al.   Molecular Genetics & Genomic Medicine

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

(2019) Mev Dominguez-Valentin et al.   GENETICS IN MEDICINE

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

(2018) Victoria K. Tesch et al.   Frontiers in Immunology

Contribution of de novo and mosaicTP53mutations to Li-Fraumeni syndrome

(2017) Mariette Renaux-Petel et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome

(2017) Neil A. J. Ryan et al.   JAMA Oncology

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

(2016) Aung Ko Win et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Decoding germline de novo point mutations

(2016) Anne Goriely   NATURE GENETICS

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

(2012) Isabelle Sourrouille et al.   Familial Cancer

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Ade novogermlineMLH1mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

(2012) Fabrice Airaud   WORLD JOURNAL OF GASTROENTEROLOGY

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

(2011) A. K. Win et al.   JOURNAL OF MEDICAL GENETICS

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer

(2008) Monika Morak et al.   EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY